Differential Diagnosis for FMF (Familial Mediterranean Fever)
Single most likely diagnosis:
- Familial Mediterranean Fever (FMF) itself, given the context of the question. FMF is an autosomal recessive disorder characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints, and is prevalent among populations of Mediterranean descent. The diagnosis is often made based on clinical criteria and genetic testing for mutations in the MEFV gene.
Other Likely diagnoses:
- Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome: This condition presents with periodic fevers accompanied by aphthous stomatitis, pharyngitis, and adenitis, and is more common in children. It's a consideration due to overlapping symptoms of recurrent fever.
- Hyper-IgD Syndrome (HIDS): Characterized by recurrent episodes of fever, often accompanied by abdominal pain, rash, and joint pain, with elevated IgD levels. It's another periodic fever syndrome that could be considered.
- Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS): An autosomal dominant condition with recurrent fever episodes, often accompanied by abdominal pain, rash, and eye inflammation. It's a differential due to the similar presentation of periodic fevers.
Do Not Miss diagnoses:
- Systemic Juvenile Idiopathic Arthritis (sJIA): Although less common, sJIA can present with systemic inflammation, fever, and rash, and can be life-threatening if not promptly treated. Missing this diagnosis could lead to significant morbidity.
- Infectious causes (e.g., Tuberculosis, Endocarditis): Chronic infections can cause recurrent fevers and must be ruled out due to their potential severity and the need for specific antimicrobial therapy.
- Malignancies (e.g., Lymphoma): Certain cancers can present with recurring fevers and must be considered to avoid delayed diagnosis and treatment.
Rare diagnoses:
- Cryopyrin-Associated Periodic Syndrome (CAPS): A group of rare, autoinflammatory disorders characterized by recurrent fever, rash, and joint pain, with potential for significant neurological involvement.
- Autoinflammatory disorders related to the NLRC4 inflammasome: Rare conditions that can cause recurrent fevers and inflammation, often with significant morbidity if not recognized and treated appropriately.
- A20 haploinsufficiency: A rare genetic disorder leading to autoinflammation, characterized by recurrent fever, gastrointestinal symptoms, and skin manifestations.